UB Paderborn / Katalog / Suche / in CDI

Sortiert nach

Einfacher Volltextzugriff von (fast) überall

Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...

Duchenne Muscular Dystrophy: From Diagnosis to Therapy

Molecules, 2015-10, Vol.20 (10), p.18168-18184

2015

Volltextzugriff (PDF)

Impact of intermittently scanned continuous glucose monitoring with alarms on sleep and metabolic outcomes in children and adolescents with type 1 diabetes

Acta diabetologica, 2022-07, Vol.59 (7), p.911-919

2022

Volltextzugriff (PDF)

TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy

European journal of human genetics : EJHG, 2020-06, Vol.28 (6), p.815-825

2020

Volltextzugriff (PDF)

Report of a novel ATP7A mutation causing distal motor neuropathy

Neuromuscular disorders : NMD, 2019-10, Vol.29 (10), p.776-785

2019

Volltextzugriff (PDF)

Duchenne Muscular Dystrophy Myogenic Cells from Urine-Derived Stem Cells Recapitulate the Dystrophin Genotype and Phenotype

Human gene therapy, 2016-10, Vol.27 (10), p.772-783

2016

Volltextzugriff (PDF)

The DMD locus harbours multiple long non-coding RNAs which orchestrate and control transcription of muscle dystrophin mRNA isoforms

PloS one, 2012-09, Vol.7 (9), p.e45328-e45328

2012

Volltextzugriff (PDF)

Circadian Genes as Exploratory Biomarkers in DMD: Results From Both the mdx Mouse Model and Patients

Frontiers in physiology, 2021-07, Vol.12, p.678974-678974

2021

Volltextzugriff (PDF)

Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family

Frontiers in genetics, 2019, Vol.9, p.723-723

2019

Volltextzugriff (PDF)

Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype

BMC medical genetics, 2012-08, Vol.13 (1), p.73-73, Article 73

2012

Volltextzugriff (PDF)

Paternal germline mosaicism in collagen VI related myopathies

European journal of paediatric neurology, 2015-09, Vol.19 (5), p.533-536

2015

Volltextzugriff (PDF)

The Popeye Domain Containing Genes and their Function in Striated Muscle

Journal of cardiovascular development and disease, 2016-06, Vol.3 (2), p.22

2016

Volltextzugriff (PDF)

Biomarkers in rare neuromuscular diseases

Experimental cell research, 2014-07, Vol.325 (1), p.44-49

2014

Volltextzugriff (PDF)

POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking

The Journal of clinical investigation, 2016-01, Vol.126 (1), p.239-253

2016

Volltextzugriff (PDF)

Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains

Neuromuscular disorders : NMD, 2017-09, Vol.27 (9), p.861-872

2017

Volltextzugriff (PDF)

Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants

Journal of neurology, neurosurgery and psychiatry, 2015-10, Vol.86 (10), p.1060-1065

2015

Volltextzugriff (PDF)

Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia

Human mutation, 2017-08, Vol.38 (8), p.970-977

2017

Volltextzugriff (PDF)

Muscle Proteomics Reveals Novel Insights into the Pathophysiological Mechanisms of Collagen VI Myopathies

Journal of proteome research, 2014-11, Vol.13 (11), p.5022-5030

2014

Volltextzugriff (PDF)

Transcriptional and epigenetic analyses of the DMD locus reveal novel cis‑acting DNA elements that govern muscle dystrophin expression

Biochimica et biophysica acta. Gene regulatory mechanisms, 2017-11, Vol.1860 (11), p.1138-1147

2017

Volltextzugriff (PDF)

Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array

Human mutation, 2012-03, Vol.33 (3), p.572-581

2012

Volltextzugriff (PDF)

Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy

Journal of cell science, 2016-04, Vol.129 (8), p.1671-1684

2016

Volltextzugriff (PDF)

Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3

Neurogenetics, 2013-11, Vol.14 (3-4), p.247-250

2013

Volltextzugriff (PDF)

POPDC1 super( S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking

The Journal of clinical investigation, 2016-01, Vol.126 (1), p.239-239

2016

Volltextzugriff (PDF)

POPDC1S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking

The Journal of clinical investigation, 2015-12, Vol.126 (1), p.239-253

2015

Volltextzugriff (PDF)

1 – 25 von 41

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(40)
Mit Volltextzugriff
(37)

Publikationsform

Artikel
(40)
Buchkapitel
(1)

Sprache

Englisch
(41)

Erscheinungsjahr

n.n

Thema

Science & Technology
(29)
Life Sciences & Biomedicine
(28)
Humans
(25)
Male
(16)
Female
(14)
Mutation
(10)
Adult
(9)
Genetics & Heredity
(8)
Adolescent
(7)
Middle Aged
(7)
Animals
(6)
Child
(6)
Dystrophin - Genetics
(6)
Endocrinology & Metabolism
(6)
Muscular Dystrophy
(6)
Algorithms
(5)
Blood Glucose - Metabolism
(5)
Diabetes
(5)
Muscular Dystrophy, Duchenne - Genetics
(5)
Proteins
(5)

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Duchenne Muscular Dystrophy: From Diagnosis to Therapy

Impact of intermittently scanned continuous glucose monitoring with alarms on sleep and metabolic outcomes in children and adolescents with type 1 diabetes

TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy

Report of a novel ATP7A mutation causing distal motor neuropathy

Duchenne Muscular Dystrophy Myogenic Cells from Urine-Derived Stem Cells Recapitulate the Dystrophin Genotype and Phenotype

The DMD locus harbours multiple long non-coding RNAs which orchestrate and control transcription of muscle dystrophin mRNA isoforms

Circadian Genes as Exploratory Biomarkers in DMD: Results From Both the mdx Mouse Model and Patients

Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family

Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype

Paternal germline mosaicism in collagen VI related myopathies

The Popeye Domain Containing Genes and their Function in Striated Muscle

Biomarkers in rare neuromuscular diseases

POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking

Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains

Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants

Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia

Muscle Proteomics Reveals Novel Insights into the Pathophysiological Mechanisms of Collagen VI Myopathies

Transcriptional and epigenetic analyses of the DMD locus reveal novel cis‑acting DNA elements that govern muscle dystrophin expression

Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array

Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy

Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3

POPDC1^sup S201F^ causes muscular dystrophy and arrhythmia by affecting protein trafficking

POPDC1 super( S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking

causes muscular dystrophy and arrhythmia by affecting protein trafficking

POPDC1S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking

Suchergebnisse filtern